Speaker Bios
Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of autism, neurodevelopmental conditions, birth defects including congenital diaphragmatic hernia and congenital heart disease. She has led studies to improve newborn screening including GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns). She is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders and is a member of the National Academy of Medicine.
Her early work examined cognitive and molecular changes in children at risk for Huntington’s Disease, identifying plasma-based biomarkers that appear decades before clinical onset. This led to her broader interest in shared proteomic and metabolomic signatures across neurodevelopmental disorders. She now leads biomarker discovery efforts involving multi-omics analyses across more than 35 rare conditions, collaborating closely with patient advocacy groups and pharmaceutical partners.
Dr. Michele Jacob’s research career has focused on defining molecular mechanisms that direct synaptic differentiation and function in healthy and disease states. Her studies have identified new mechanisms responsible for synaptic dysfunction in intellectual disabilities, autism, seizures, and reduced hearing. Her recent research efforts center on CTNNB1/β-catenin, a high-confidence risk gene for intellectual disabilities and autism. Her research team has developed mouse models with dysregulation of this pathway in brain neurons and has multiple publications defining novel molecular and functional changes that can lead to seizures, autism relevant behaviors and learning deficits of varying severities.
Her current work focuses on CTNNB1 syndrome, using preclinical mouse and human cell models, including several CTNNB1 syndrome patient derived cell lines harboring distinct mutations that span the gene. Her team’s findings have identified novel molecular, functional, and structural changes in the brain and spinal cord. Importantly, the team has identified two prodrugs as efficacious, therapeutic treatments with potential to provide significant beneficial outcomes in CTNNB1 syndrome individuals.
Dr. Jacob’s two new publications detail small molecule and RNA-based therapeutic approaches that significantly improve CTNNB1 syndrome phenotypes in the mouse and patient cell models. Her preclinical work is being advanced by important collaborations, including a research agreement with NIH NCATS-TDB (National Center for Translational Science- Therapeutic Development Branch) and the Harrington Discovery Institute, as she is the recipient of a prestigious Oxford Harrington Rare Disease Scholar Award. She is a lead researcher for CTNNB1 Connect and Cure, Inc., and serves on the Scientific Advisory Board of CTNNB1 Italia.
Anna C. Pfalzer, Ph.D. is a Research Assistant Professor of Neurology at Vanderbilt University Medical Center and Chief Scientific Officer at COMBINEDBrain. Her research focuses on identifying early biomarkers of neurodevelopmental and neurodegenerative disorders, with an emphasis on rare, genetic conditions. Dr. Pfalzer holds a Ph.D. in Biochemistry from Tufts University and completed post-doctoral fellowships in neuroscience and pediatric neurology at Vanderbilt.
Her early work examined cognitive and molecular changes in children at risk for Huntington’s Disease, identifying plasma-based biomarkers that appear decades before clinical onset. This led to her broader interest in shared proteomic and metabolomic signatures across neurodevelopmental disorders. She now leads biomarker discovery efforts involving multi-omics analyses across more than 35 rare conditions, collaborating closely with patient advocacy groups and pharmaceutical partners.
Dr. Mohammad Moshahid Khan is an Associate Professor in the Department of Neurology at the University of Tennessee Health Science Center, Memphis TN. He is a neuroscientist with over a decade of experience investigating the molecular mechanisms underlying neurodegenerative diseases, including Alzheimer’s and Parkinson’s disease. His research spans DNA damage and repair, neuroimmune signaling, and the identification of early pathogenic triggers using multidisciplinary approaches.
Recently, Dr. Khan’s work has expanded to explore gut-brain axis interactions, with a particular focus on the gut microbiome’s role in rare genetic neurological disorders such as dystonia and CTNNB1 syndrome. He is currently supported by a newly funded Department of Defense grant to study microbiome contributions to dystonia pathophysiology. Dr. Khan has been continuously funded by the NIH, DOD, and foundations, and has authored over 60 peer-reviewed publications.
His work has been cited more than 6,000 times (h-index: 41). He serves on multiple editorial boards, reviews for major neuroscience funding agencies, and contributes as an ad hoc member of NIH and DOD study sections. He has served as an invited speaker at several national and international conferences, sharing his expertise in neurodegeneration and neuroimmune interactions. At UTHSC, he leads a research program focused on discovering novel therapeutic strategies for incurable neurological disorders and actively mentors undergraduate students, graduate trainees, and postdoctoral fellows.
Kellan Weston earned her Ph.D. in Molecular and Cell biology from Washington University in St. Louis in 2024. There, she identified gain of function variants in UBE3A, the causative gene of the rare neurodevelopmental disorder, Angelman syndrome. Now, she is a postdoctoral fellow at COMBINEDBrain, where she focuses on drug repurposing and observational studies.
Emily Amerson is the current President of CTNNB1 Connect & Cure. She and her husband, Cody, live in Charleston, SC, with their two daughters, Savannah and Nora. When Savannah was diagnosed with CTNNB1 syndrome in 2022, Emily immediately got involved by organizing a fundraiser and managing CCC’s social media. She became increasingly active in the operations of the organization, and was appointed President at the end of 2023. Previous to this role, she taught high school math and founded an online math tutoring business. Emily holds bachelor’s degrees in Mathematical Science and Secondary Education from Clemson University as well as a Master’s in Mathematical Sciences.
Drew H. Scoles, M.D., Ph.D. is a pediatric and adult retina specialist and assistant professor of ophthalmology at the Children’s Hospital of Philadelphia and the University of Pennsylvania in Philadelphia, Pennsylvania. His clinical expertise includes medical and surgical treatment of retinal disorders in patients from birth through 100+ years. He has a strong interest in improving the understanding and treatment of pediatric vitreoretinopathies through clinical research.
Dr. Scoles received his B.S. and Ph.D in biomedical engineering at the University of Rochester followed by his M.D. at the University of Rochester. He completed ophthalmology residency training at the University of Pennsylvania, followed by vitreoretinal surgery fellowship at Associated Retinal Consultants in Royal Oak, Michigan. He is a board-certified ophthalmologist.